Canonical Allele Identifier: CA2576316741

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167847_50167848insT , CM000679.2:g.50167847_50167848insT	GRCh38
NC_000017.10:g.48245208_48245209insT , CM000679.1:g.48245208_48245209insT	GRCh37
NC_000017.9:g.45600207_45600208insT	NCBI36
NG_008889.1:g.6843_6844insT , LRG_203:g.6843_6844insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.313-100_313-99insT	ENSP00000422030.2:n.313-100_313-99insT
ENST00000511303.6:n.38-100_38-99insT
ENST00000512526.2:c.304-100_304-99insT	ENSP00000426606.2:n.304-100_304-99insT
ENST00000682109.1:c.193-100_193-99insT	ENSP00000508041.1:n.193-100_193-99insT
ENST00000683226.1:n.23-100_23-99insT
ENST00000683294.1:c.313-100_313-99insT	ENSP00000508134.1:n.313-100_313-99insT
ENST00000262018.8:c.313-100_313-99insT MANE Select	ENSP00000262018.3:n.313-100_313-99insT
ENST00000262018.7:c.313-100_313-99insT	ENSP00000262018.3:n.313-100_313-99insT
ENST00000344627.10:c.313-100_313-99insT	ENSP00000345522.6:n.313-100_313-99insT
ENST00000502555.5:c.158-100_158-99insT	ENSP00000422817.1:n.158-100_158-99insT
ENST00000511303.5:c.34-100_34-99insT	ENSP00000426104.1:n.34-100_34-99insT
ENST00000512526.1:c.148-100_148-99insT
ENST00000513821.5:c.313-100_313-99insT	ENSP00000426571.1:n.313-100_313-99insT
ENST00000513942.5:n.104-100_104-99insT
ENST00000514934.1:c.*19-100_*19-99insT	ENSP00000423168.1:n.*19-100_*19-99insT
NM_000023.2:c.313-100_313-99insT , LRG_203t1:c.313-100_313-99insT	NP_000014.1:n.313-100_313-99insT
NM_001135697.1:c.313-100_313-99insT	NP_001129169.1:n.313-100_313-99insT
XM_011525120.1:c.313-100_313-99insT	XP_011523422.1:n.313-100_313-99insT
XM_011525121.1:c.313-100_313-99insT	XP_011523423.1:n.313-100_313-99insT
XM_011525122.1:c.313-100_313-99insT	XP_011523424.1:n.313-100_313-99insT
XM_011525123.1:c.313-100_313-99insT	XP_011523425.1:n.313-100_313-99insT
XM_011525124.1:c.7-100_7-99insT	XP_011523426.1:n.7-100_7-99insT
XR_934517.1:n.379-100_379-99insT
NM_000023.3:c.313-100_313-99insT	NP_000014.1:n.313-100_313-99insT
NM_001135697.2:c.313-100_313-99insT	NP_001129169.1:n.313-100_313-99insT
NR_135553.1:n.369-100_369-99insT
XM_011525120.2:c.475-100_475-99insT	XP_011523422.2:n.475-100_475-99insT
XM_011525121.2:c.475-100_475-99insT	XP_011523423.2:n.475-100_475-99insT
XM_011525122.2:c.475-100_475-99insT	XP_011523424.2:n.475-100_475-99insT
XM_011525123.2:c.475-100_475-99insT	XP_011523425.2:n.475-100_475-99insT
XM_011525124.2:c.7-100_7-99insT	XP_011523426.1:n.7-100_7-99insT
XM_024450873.1:c.7-100_7-99insT	XP_024306641.1:n.7-100_7-99insT
XR_002958056.1:n.831-100_831-99insT
NM_000023.4:c.313-100_313-99insT MANE Select	NP_000014.1:n.313-100_313-99insT
NM_001135697.3:c.313-100_313-99insT	NP_001129169.1:n.313-100_313-99insT
NR_135553.2:n.349-100_349-99insT